ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.*692AAT[10]

dbSNP: rs113316798
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000305195 SCV000480032 uncertain significance Sialuria 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000343668 SCV000480033 uncertain significance Inclusion Body Myopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000396463 SCV000480034 uncertain significance GNE myopathy 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004696147 SCV005195415 uncertain significance not provided criteria provided, single submitter not provided

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